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Laryngeal Paralysis with Polyneuropathy (LPPN3) is a neural disorder which causes an altered voice, difficulty swallowing and loss of coordination.
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Caractéristiques
| Breeds | Berger des Pyrénées, Dogue Allemand, Leonberg, Labrador Retriever, Saint Bernard |
|---|---|
| Gene | |
| Chromosome | 9 |
| Mutation | c.2810G>A |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
Informations générales
Laryngeal Paralysis with Polyneuropathy (LPPN3) is a neural disorder which causes an altered voice, difficulty swallowing and loss of coordination. This variant has been observed in the Labrador Retriever, Leonberger and Saint Bernard, and is caused by a recessive mutation to the gene CNTNAP1.
Caractéristiques cliniques
The main symptom of LPPN is difficult, noisy or raspy breathing. Other signs can include altered barking, difficulty swallowing, uncoordinated walking, stumbling or tripping and atrophy of the limb muscles.
Additional Information
Références
Pubmed ID: 33261176
Year published: 2020
Omia ID: 2301
Omia variant ID: 1273